Mutagenetix > Incidental Mutation

Incidental Mutation 'R6694:Usp29'

528492

Institutional Source

Beutler Lab

Gene Symbol

Usp29

Ensembl Gene

ENSMUSG00000051527

Gene Name

ubiquitin specific peptidase 29

Synonyms

Ocat

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6694 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

6730578-6967219 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 6962277 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 373 (E373G)

Ref Sequence

ENSEMBL: ENSMUSP00000143769 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054055] [ENSMUST00000197117] [ENSMUST00000198068] [ENSMUST00000200535]

AlphaFold

Q9ES63

Predicted Effect

probably benign
Transcript: ENSMUST00000054055
AA Change: E373G

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000062349
Gene: ENSMUSG00000051527
AA Change: E373G

Domain	Start	End	E-Value	Type
Pfam:UCH_N	1	107	6.1e-37	PFAM
low complexity region	162	179	N/A	INTRINSIC
low complexity region	200	214	N/A	INTRINSIC
Pfam:UCH	288	823	6.1e-53	PFAM
Pfam:UCH_1	289	615	2.3e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000197117

SMART Domains

Protein: ENSMUSP00000143283
Gene: ENSMUSG00000051527

Domain	Start	End	E-Value	Type
PDB:3U12\|B	11	73	3e-7	PDB
low complexity region	82	95	N/A	INTRINSIC
low complexity region	169	186	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000198068
AA Change: E373G

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000143267
Gene: ENSMUSG00000051527
AA Change: E373G

Domain	Start	End	E-Value	Type
PDB:3U12\|B	11	123	3e-6	PDB
low complexity region	169	186	N/A	INTRINSIC
low complexity region	207	221	N/A	INTRINSIC
Pfam:UCH	295	830	7.9e-52	PFAM
Pfam:UCH_1	296	626	9.6e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000200535
AA Change: E373G

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000143769
Gene: ENSMUSG00000051527
AA Change: E373G

Domain	Start	End	E-Value	Type
Pfam:UCH_N	8	114	8.3e-34	PFAM
low complexity region	169	186	N/A	INTRINSIC
low complexity region	207	221	N/A	INTRINSIC
Pfam:UCH	295	830	2.8e-51	PFAM
Pfam:UCH_1	296	622	1.1e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203365

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204486

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.7%

Validation Efficiency

95% (41/43)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600015I10Rik	G	A	6: 48,930,546	S160N	probably benign	Het
4930444G20Rik	T	C	10: 22,067,721	E120G	probably damaging	Het
Arap3	A	C	18: 37,991,537		probably null	Het
Arhgap10	A	G	8: 77,411,063	F300L	probably benign	Het
Ccdc116	T	C	16: 17,142,791	E54G	probably benign	Het
Cd53	T	A	3: 106,767,386	I122F	probably benign	Het
Ctnnd1	T	C	2: 84,624,505		probably benign	Het
Ddx60	A	G	8: 62,037,070	D1691G	probably damaging	Het
Dnah11	T	C	12: 118,186,882		probably null	Het
Exoc1	T	A	5: 76,549,552	M392K	probably damaging	Het
Exoc3l	G	C	8: 105,290,490	R622G	probably benign	Het
Grid2	C	G	6: 63,931,047	R224G	possibly damaging	Het
Kif20a	A	G	18: 34,625,526	E16G	probably damaging	Het
Kit	T	C	5: 75,640,757	V568A	possibly damaging	Het
Lhx4	T	C	1: 155,704,710	S257G	probably benign	Het
Med18	C	T	4: 132,459,982	V114I	probably benign	Het
Mrps30	C	T	13: 118,386,961	V92M	possibly damaging	Het
Mtrr	C	T	13: 68,564,333	V645I	probably benign	Het
Nuak2	T	G	1: 132,332,310	S609A	probably damaging	Het
Olfr1393	A	T	11: 49,280,552	I135F	probably benign	Het
Plk4	T	C	3: 40,801,828	V58A	probably damaging	Het
Polq	T	A	16: 37,015,173	F145L	probably null	Het
Rab11fip2	T	C	19: 59,937,275	K170R	probably damaging	Het
Rapgef3	A	G	15: 97,759,984	V246A	probably benign	Het
Rc3h2	A	G	2: 37,400,543	S316P	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904		probably benign	Homo
Rsf1	GCGGCGGC	GCGGCGGCGACGGCGGC	7: 97,579,928		probably benign	Het
Sae1	G	T	7: 16,368,536	A171E	probably damaging	Het
Setd5	T	A	6: 113,143,708	N959K	probably benign	Het
Siae	T	A	9: 37,616,823	Y31N	probably damaging	Het
Sit1	C	T	4: 43,483,311	G51D	probably damaging	Het
Slc5a11	A	G	7: 123,267,789	I436V	possibly damaging	Het
Tcfl5	A	G	2: 180,622,654	S470P	probably damaging	Het
Timd2	A	T	11: 46,670,952	C288*	probably null	Het
Timeless	T	G	10: 128,239,999		probably null	Het
Ubxn8	G	T	8: 33,621,544	Q274K	possibly damaging	Het
Zap70	A	G	1: 36,782,517	Y597C	probably damaging	Het
Zfp523	T	G	17: 28,200,472	Y195D	probably damaging	Het
Zfp74	G	A	7: 29,935,134	A383V	probably damaging	Het
Zfp93	A	T	7: 24,275,913	Q441L	probably damaging	Het
Zfp976	A	T	7: 42,614,186	Y76N	probably damaging	Het

Other mutations in Usp29

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00659:Usp29	APN	7	6962282	missense	probably benign	0.06
IGL01588:Usp29	APN	7	6962611	missense	probably benign	0.33
IGL02032:Usp29	APN	7	6962018	missense	probably benign	0.41
IGL02052:Usp29	APN	7	6962526	missense	probably benign	0.06
IGL02331:Usp29	APN	7	6962156	missense	probably benign	0.16
IGL02551:Usp29	APN	7	6963353	splice site	probably null
IGL02573:Usp29	APN	7	6962618	splice site	probably null
IGL02894:Usp29	APN	7	6961634	missense	probably benign	0.00
R0029:Usp29	UTSW	7	6961581	missense	probably damaging	0.99
R0142:Usp29	UTSW	7	6962335	missense	probably benign	0.12
R0452:Usp29	UTSW	7	6963182	missense	possibly damaging	0.82
R0680:Usp29	UTSW	7	6962885	missense	possibly damaging	0.92
R1161:Usp29	UTSW	7	6961530	missense	probably damaging	1.00
R2391:Usp29	UTSW	7	6963771	splice site	probably null
R3104:Usp29	UTSW	7	6962053	nonsense	probably null
R4119:Usp29	UTSW	7	6962806	missense	probably benign	0.03
R4490:Usp29	UTSW	7	6961950	missense	possibly damaging	0.68
R4598:Usp29	UTSW	7	6962480	missense	probably benign	0.06
R4606:Usp29	UTSW	7	6963357	splice site	probably null
R4670:Usp29	UTSW	7	6962915	missense	possibly damaging	0.91
R4777:Usp29	UTSW	7	6962748	missense	probably benign	0.07
R4783:Usp29	UTSW	7	6961391	missense	probably damaging	1.00
R4785:Usp29	UTSW	7	6961391	missense	probably damaging	1.00
R4896:Usp29	UTSW	7	6962159	missense	probably benign	0.29
R4915:Usp29	UTSW	7	6961505	missense	probably benign
R4944:Usp29	UTSW	7	6961928	missense	possibly damaging	0.92
R5004:Usp29	UTSW	7	6962159	missense	probably benign	0.29
R5171:Usp29	UTSW	7	6962075	missense	probably damaging	0.99
R5268:Usp29	UTSW	7	6961584	missense	probably damaging	0.98
R5572:Usp29	UTSW	7	6962192	missense	probably benign	0.12
R5933:Usp29	UTSW	7	6961745	missense	probably benign
R7389:Usp29	UTSW	7	6963458	missense	possibly damaging	0.82
R7446:Usp29	UTSW	7	6961220	missense	possibly damaging	0.93
R7447:Usp29	UTSW	7	6961220	missense	possibly damaging	0.93
R7535:Usp29	UTSW	7	6961220	missense	possibly damaging	0.93
R7537:Usp29	UTSW	7	6961220	missense	possibly damaging	0.93
R8081:Usp29	UTSW	7	6963630	missense	probably benign	0.02
R8233:Usp29	UTSW	7	6962407	missense	probably benign	0.12
R8703:Usp29	UTSW	7	6961322	missense	probably benign	0.32
R8725:Usp29	UTSW	7	6962918	missense	probably damaging	0.98
R8727:Usp29	UTSW	7	6962918	missense	probably damaging	0.98
R8844:Usp29	UTSW	7	6961892	missense	probably benign	0.02
R9173:Usp29	UTSW	7	6961637	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- TGGGATTCCAACCTTTGCAAAG -3'
(R):5'- TTGATAGTAGCCTCACCACAGC -3'

Sequencing Primer
(F):5'- TTGCAAAGGACTTACTCACTCAAGG -3'
(R):5'- CTTCACAGATGATGGAGCTATGC -3'

Posted On

2018-07-24